A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12857799



Internal ID6033530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:77256793..77266224hg38UCSC Ensembl
Innerchr7:77256793..77266224hg38UCSC Ensembl
Outerchr7:77256293..77266724hg38UCSC Ensembl
chr7:76886110..76895541hg19UCSC Ensembl
Innerchr7:76886110..76895541hg19UCSC Ensembl
Outerchr7:76885610..76896041hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg389432
hg199432
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3613796
Supporting Variants
SamplesNA19438
Known GenesCCDC146
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12857799
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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